Canonical Allele Identifier: CA389465998

Gene: PAX9

Linked Data

• MyVariant Identifiers: chr14:g.37132141T>G (hg19) ; chr14:g.36662936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36662936T>G , CM000676.2:g.36662936T>G	GRCh38
NC_000014.8:g.37132141T>G , CM000676.1:g.37132141T>G	GRCh37
NC_000014.7:g.36201892T>G	NCBI36
NG_013357.1:g.10369T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.44T>G MANE Select	ENSP00000355245.6:p.Phe15Cys
ENST00000555639.2:c.44T>G	ENSP00000501203.1:p.Phe15Cys
ENST00000361487.6:c.44T>G	ENSP00000355245.6:p.Phe15Cys
ENST00000402703.6:c.44T>G	ENSP00000384817.2:p.Phe15Cys
ENST00000554201.1:c.-518T>G	ENSP00000450434.1:n.-518T>G
ENST00000555639.1:n.346T>G
NM_006194.3:c.44T>G	NP_006185.1:p.Phe15Cys
NM_001372076.1:c.44T>G MANE Select	NP_001359005.1:p.Phe15Cys
NM_006194.4:c.44T>G	NP_006185.1:p.Phe15Cys